A2ML1

This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein is thought to be an N-glycosylated monomeric protein that acts as an inhibitor of several proteases. It has been shown to form covalent interactions with proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP; PMID:20805888). Mutations in these gene have also been associated with some cases of Noonan syndrome (NS; PMID:24939586) as well as some cases of otitis media (PMID:26121085). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]

Description

Alpha-2-macroglobulin like 1

Tissue specificity

Tissue enhanced (esophagus, vagina)

Predicted location

Intracellular, Secreted in other tissues

Protein family

Disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Predicted secreted proteins
Protein evidence (Ezkurdia et al 2014)

Chromosome

12 (8822621 - 8887001)

Ensembl ID

ENSG00000166535  (ver. 103.38)

Orthologs

-

UniProt

A8K2U0

neXtProt

NX_A8K2U0

Human splice variants

Protein structure